NADH Dehydrogenase 1 Alpha Subcomplex 2, also known as NDUFAF2, is a protein encoded by the NDUFAF2 gene in humans. This protein is a crucial component of the mitochondrial respiratory chain complex I, which plays a vital role in cellular energy production. The recombinant form of this protein is often used in research to study its function and role in various diseases.
NDUFAF2 acts as a molecular chaperone for the assembly of mitochondrial complex I . Complex I, also known as NADH:ubiquinone oxidoreductase, is the first enzyme in the mitochondrial electron transport chain. It catalyzes the transfer of electrons from NADH to ubiquinone, a process that is essential for the production of ATP, the primary energy currency of the cell .
The protein is located in the mitochondrial inner membrane and is involved in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone . The proper assembly and function of complex I are critical for maintaining cellular energy homeostasis.
NDUFAF2 is essential for the normal functioning of cells. Mutations in the NDUFAF2 gene can lead to mitochondrial complex I deficiency, a condition characterized by defective oxidative phosphorylation. This deficiency is the most common biochemical signature of mitochondrial disorders, which can manifest in various clinical phenotypes, including neurodegenerative disorders, cardiomyopathy, and liver disease .
The recombinant form of NDUFAF2 is produced using genetic engineering techniques. The gene encoding NDUFAF2 is cloned into an expression vector, which is then introduced into a suitable host cell, such as Escherichia coli or yeast. The host cells are cultured under conditions that promote the expression of the recombinant protein. The protein is then purified using various chromatographic techniques to obtain a high-purity product suitable for research purposes.
Recombinant NDUFAF2 is widely used in research to study the assembly and function of mitochondrial complex I. It is also used to investigate the molecular mechanisms underlying mitochondrial disorders and to develop potential therapeutic strategies. Additionally, the recombinant protein can be used in structural studies to gain insights into the protein’s three-dimensional structure and its interactions with other components of the electron transport chain.